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Table 3 Overview on the 17 patients screened for SLC7A13 mutations

From: No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria

patient

ethnic origin

age at first stone

age at examination

number of recurrent stones

published in

Cys3

Italian

4 m

12 y

5–10

[9]

Cys4

Italian

1 y

5 y

< 5

[9]

Cys21

Italian

23 y

none

[9]

Cys23

Turkish

NA

30 y

< 5

[10]

Cys43

German

19 y

51 y

> 10

[10]

Cys58

Turkish

6 y

16 y

< 5

[14]

Cys63

German

13 m

3 y

5–10

[14]

Cys89

Russian

25 y

30 y

< 5

[14]

Cys98

German

3.5 y

5 y

< 5

[14]

Cys105

Russian

1.5 y

12 y

5–10

[14]

Cys116

Turkish

1.5 y

11 y

5–10

[12]

Cys128

Turkish

17 y

23 y

> 10

[12]

Cys152

German

NA

NA

NA

[12]

Cys161

Turkish

1 m

1 m

1

[12]

Cys181

Polish

3 y

9 y

> 10

[13]

Cys183

Polish

6 y

6 y

5–10

[13]

M20679

German

NA

52 y

1

  1. Mutations in the SLC3A1 and SLC7A9 genes had been excluded before (see texts). The majority of patients was in included in precedent studies. (NA not assessed; y year, m months)